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Q96ST8

- CEP89_HUMAN

UniProt

Q96ST8 - CEP89_HUMAN

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Protein

Centrosomal protein of 89 kDa

Gene

CEP89

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.2 Publications

GO - Biological processi

  1. cilium assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 89 kDa
Short name:
Cep89
Alternative name(s):
Centrosomal protein 123
Short name:
Cep123
Coiled-coil domain-containing protein 123
Gene namesi
Name:CEP89
Synonyms:CCDC123
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:25907. CEP89.

Subcellular locationi

Cytoplasmcytosol. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonspindle pole. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Mitochondrion intermembrane space
Note: Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. ciliary transition fiber Source: MGI
  4. cytoplasm Source: HPA
  5. mitochondrion Source: UniProtKB-KW
  6. plasma membrane Source: HPA
  7. spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness.1 Publication

Organism-specific databases

Orphaneti254905. Isolated cytochrome C oxidase deficiency.
PharmGKBiPA147358250.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 783783Centrosomal protein of 89 kDaPRO_0000288809Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei50 – 501Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96ST8.
PaxDbiQ96ST8.
PRIDEiQ96ST8.

PTM databases

PhosphoSiteiQ96ST8.

Expressioni

Gene expression databases

BgeeiQ96ST8.
CleanExiHS_CCDC123.
ExpressionAtlasiQ96ST8. baseline and differential.
GenevestigatoriQ96ST8.

Organism-specific databases

HPAiHPA039382.
HPA040056.

Interactioni

Protein-protein interaction databases

BioGridi124342. 3 interactions.
DIPiDIP-47325N.
IntActiQ96ST8. 4 interactions.
STRINGi9606.ENSP00000306105.

Structurei

3D structure databases

ProteinModelPortaliQ96ST8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili234 – 333100Sequence AnalysisAdd
BLAST
Coiled coili369 – 719351Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG75458.
GeneTreeiENSGT00390000018876.
HOGENOMiHOG000111383.
HOVERGENiHBG075238.
InParanoidiQ96ST8.
KOiK16543.
OMAiPSPDITG.
OrthoDBiEOG7XM30C.
PhylomeDBiQ96ST8.
TreeFamiTF329234.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96ST8-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS
60 70 80 90 100
ALAAAILATT LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR
110 120 130 140 150
PRPNWQSEMG RRSSLPSFET LDYGDEEDIE TQLSSSGKEL GDVSAREDRG
160 170 180 190 200
GHSDDLYAVP HRNQVPLLHE VNSEDDENIS HQDGFPGSPP APQRTQQKDG
210 220 230 240 250
KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF EALKEENMDL
260 270 280 290 300
NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE
310 320 330 340 350
LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL
360 370 380 390 400
PSKGPIPPWL LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE
410 420 430 440 450
VVKENEELHQ ELNKSSAVTS EEWRQLQTQA KLVLEENKLL LEQLEIQQRK
460 470 480 490 500
AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE KELAENREQL EILRAKCQEL
510 520 530 540 550
KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME KLTVLQAQKK
560 570 580 590 600
SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS
610 620 630 640 650
AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL
660 670 680 690 700
EEKVKGYKKQ AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK
710 720 730 740 750
QEVLDQALQQ NREMEGELEV IWESTFRENR RIRELLQDTL TRTGVQDNPR
760 770 780
ALVAPSLNGV SQADLLDGCD VCSYDLKSHA PTC
Length:783
Mass (Da):89,590
Last modified:May 18, 2010 - v3
Checksum:i7EE45B222951CED0
GO
Isoform 2 (identifier: Q96ST8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.

Note: No experimental confirmation available.

Show »
Length:536
Mass (Da):62,126
Checksum:i3E3D037CC5C62FCF
GO
Isoform 3 (identifier: Q96ST8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-356: SLNIEGLPSKGPI → VTFPIVKISFSDF
     357-782: Missing.

Note: No experimental confirmation available.

Show »
Length:357
Mass (Da):40,338
Checksum:iB54BFDAC136EA215
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti194 – 1941R → W.
Corresponds to variant rs3764633 [ dbSNP | Ensembl ].
VAR_063122
Natural varianti398 – 3981V → A.2 Publications
Corresponds to variant rs4805825 [ dbSNP | Ensembl ].
VAR_063123

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 247247Missing in isoform 2. 1 PublicationVSP_039181Add
BLAST
Alternative sequencei344 – 35613SLNIE…SKGPI → VTFPIVKISFSDF in isoform 3. 1 PublicationVSP_039182Add
BLAST
Alternative sequencei357 – 782426Missing in isoform 3. 1 PublicationVSP_039183Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027546 mRNA. Translation: BAB55190.1.
AC008805 Genomic DNA. No translation available.
AC119048 Genomic DNA. No translation available.
AC011449 Genomic DNA. No translation available.
BC032307 mRNA. Translation: AAH32307.1.
BC136328 mRNA. Translation: AAI36329.1.
CCDSiCCDS32987.1. [Q96ST8-1]
RefSeqiNP_116205.3. NM_032816.3. [Q96ST8-1]
XP_005259402.1. XM_005259345.1. [Q96ST8-2]
UniGeneiHs.599703.

Genome annotation databases

EnsembliENST00000305768; ENSP00000306105; ENSG00000121289. [Q96ST8-1]
ENST00000590597; ENSP00000466442; ENSG00000121289.
GeneIDi84902.
KEGGihsa:84902.
UCSCiuc002ntx.3. human. [Q96ST8-1]
uc002nua.3. human. [Q96ST8-3]

Polymorphism databases

DMDMi296439414.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027546 mRNA. Translation: BAB55190.1 .
AC008805 Genomic DNA. No translation available.
AC119048 Genomic DNA. No translation available.
AC011449 Genomic DNA. No translation available.
BC032307 mRNA. Translation: AAH32307.1 .
BC136328 mRNA. Translation: AAI36329.1 .
CCDSi CCDS32987.1. [Q96ST8-1 ]
RefSeqi NP_116205.3. NM_032816.3. [Q96ST8-1 ]
XP_005259402.1. XM_005259345.1. [Q96ST8-2 ]
UniGenei Hs.599703.

3D structure databases

ProteinModelPortali Q96ST8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124342. 3 interactions.
DIPi DIP-47325N.
IntActi Q96ST8. 4 interactions.
STRINGi 9606.ENSP00000306105.

PTM databases

PhosphoSitei Q96ST8.

Polymorphism databases

DMDMi 296439414.

Proteomic databases

MaxQBi Q96ST8.
PaxDbi Q96ST8.
PRIDEi Q96ST8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000305768 ; ENSP00000306105 ; ENSG00000121289 . [Q96ST8-1 ]
ENST00000590597 ; ENSP00000466442 ; ENSG00000121289 .
GeneIDi 84902.
KEGGi hsa:84902.
UCSCi uc002ntx.3. human. [Q96ST8-1 ]
uc002nua.3. human. [Q96ST8-3 ]

Organism-specific databases

CTDi 84902.
GeneCardsi GC19M033370.
H-InvDB HIX0022917.
HGNCi HGNC:25907. CEP89.
HPAi HPA039382.
HPA040056.
MIMi 615470. gene.
neXtProti NX_Q96ST8.
Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
PharmGKBi PA147358250.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG75458.
GeneTreei ENSGT00390000018876.
HOGENOMi HOG000111383.
HOVERGENi HBG075238.
InParanoidi Q96ST8.
KOi K16543.
OMAi PSPDITG.
OrthoDBi EOG7XM30C.
PhylomeDBi Q96ST8.
TreeFami TF329234.

Miscellaneous databases

GenomeRNAii 84902.
NextBioi 75272.
PROi Q96ST8.
SOURCEi Search...

Gene expression databases

Bgeei Q96ST8.
CleanExi HS_CCDC123.
ExpressionAtlasi Q96ST8. baseline and differential.
Genevestigatori Q96ST8.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-398.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-398.
    Tissue: Brain and Colon.
  4. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  5. "Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy."
    Sillibourne J.E., Specht C.G., Izeddin I., Hurbain I., Tran P., Triller A., Darzacq X., Dahan M., Bornens M.
    Cytoskeleton 68:619-627(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
    Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
    EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
  7. "Centriole distal appendages promote membrane docking, leading to cilia initiation."
    Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
    Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  8. Cited for: FUNCTION, SUBCELLULAR LOCATION, DISEASE.

Entry informationi

Entry nameiCEP89_HUMAN
AccessioniPrimary (citable) accession number: Q96ST8
Secondary accession number(s): B9EGA6, Q8N5J8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 91 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3